Gene: FLG
Alternate names for this Gene: ATOD2
Gene Summary: The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.
Gene is located in Chromosome: 1
Location in Chromosome : 1q21.3
Description of this Gene: filaggrin
Type of Gene: protein-coding
Gene: FLG-AS1
Alternate names for this Gene: -
Gene Summary:
Gene is located in Chromosome: 1
Location in Chromosome : 1q21.3
Description of this Gene: FLG antisense RNA 1
Type of Gene: ncRNA
rs61816761 in
FLG;FLG-AS1 gene and
Allergic Reaction
PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
rs61816761 in
FLG;FLG-AS1 gene and
Arthralgia
PMID 17030239 2006 Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
PMID 16815158 2006 Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
PMID 16550169 2006 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
rs61816761 in
FLG;FLG-AS1 gene and
Asthma
PMID 30552067 2019 Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.
PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.
rs558269137 in
FLG;FLG-AS1 gene and
Autistic Disorder
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
rs61816761 in
FLG;FLG-AS1 gene and
Childhood asthma
PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.
rs61816761 in
FLG;FLG-AS1 gene and
Dermatitis, Atopic
PMID 17030239 2006 Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
PMID 16550169 2006 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
PMID 16815158 2006 We evaluated the association of the loss-of-function mutations R501X and 2282del4 within the FLG gene in a large collection of 476 well-characterized white German families with AD by using the transmission-disequilibrium test.
rs558269137 in
FLG;FLG-AS1 gene and
Dermatitis, Atopic, 2
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
rs372754256 in
FLG;FLG-AS1 gene and
Dysmorphic features
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 20790920 1966 Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.
PMID 21173567 2011 Filaggrin gene defects and the risk of developing allergic disorders.
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
PMID 17417636 2007 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
rs558269137 in
FLG;FLG-AS1 gene and
Eczema
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs61816761 in
FLG;FLG-AS1 gene and
Erythema
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
PMID 17030239 2006 Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
PMID 16550169 2006 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
PMID 16815158 2006 Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
rs141784184 in
FLG;FLG-AS1 gene and
Ichthyosis Vulgaris
PMID 16815158 2006 Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
PMID 16550169 2006 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
PMID 19733298 2009 Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum.
PMID 27363669 2016 The study of filaggrin gene mutations and copy number variation in atopic dermatitis patients from Volga-Ural region of Russia.
PMID 20573035 2010 Filaggrin gene variants and atopic diseases in early childhood assessed longitudinally from birth.
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
PMID 19538357 2009 Association of Filaggrin loss-of-function-mutations with atopic dermatitis and asthma in the Early Treatment of the Atopic Child (ETAC) population.
PMID 19839980 2009 Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure.
PMID 27279822 2016 The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis.
PMID 23947670 2013 Filaggrin compound heterozygous patients carry mutations in trans position.
PMID 17030239 2006 Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
PMID 22403702 2012 Interplay of filaggrin loss-of-function variants, allergic sensitization, and eczema in a longitudinal study covering infancy to 18 years of age.
PMID 19874431 2010 Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
PMID 19501237 2009 Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease.
PMID 18325573 2008 The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study.
PMID 21514438 2011 Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.
rs61816761 in
FLG;FLG-AS1 gene and
Inflammatory dermatosis
PMID 17030239 2006 Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
PMID 16550169 2006 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
PMID 16815158 2006 Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
rs11204981 in
FLG;FLG-AS1 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs372754256 in
FLG;FLG-AS1 gene and
Movement Disorders
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 21173567 2011 Filaggrin gene defects and the risk of developing allergic disorders.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 20790920 1966 Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
PMID 17417636 2007 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
rs372754256 in
FLG;FLG-AS1 gene and
Muscle hypotonia
PMID 21173567 2011 Filaggrin gene defects and the risk of developing allergic disorders.
PMID 17417636 2007 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 20790920 1966 Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
rs558269137 in
FLG;FLG-AS1 gene and
Overgrowth
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
rs558269137 in
FLG;FLG-AS1 gene and
Poor school performance
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
rs61816761 in
FLG;FLG-AS1 gene and
Respiratory Tract Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs558269137 in
FLG;FLG-AS1 gene and
Seizures
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.